European Journal of Paediatric Neurology最新文献

{"title":"Moving across disorders: A cross-sectional study of cognition in early onset ataxia and dystonia","authors":"Maraike A. Coenen ,&nbsp;Deborah Sival ,&nbsp;Rick Brandsma ,&nbsp;Hendriekje Eggink ,&nbsp;Marieke E. Timmerman ,&nbsp;Marina A. Tijssen ,&nbsp;Jacoba M. Spikman","doi":"10.1016/j.ejpn.2024.02.016","DOIUrl":"10.1016/j.ejpn.2024.02.016","url":null,"abstract":"<div><h3>Background</h3><p>Early onset ataxia (EOA) and Early Onset Dystonia (EOD) are movement disorders developing in young people (age &lt;25 per definition). These disorders result from dysfunctional networks involving the cerebellum and basal ganglia. As these structures are also important for cognition, cognitive deficits can be expected in EOA and EOD. EOA and EOD sometimes co-occur, but in those cases the predominant phenotype is determining. A pending question is whether predominantly EOA and EOD have different profiles of cognitive impairment.</p></div><div><h3>Objectives</h3><p>We investigated whether cognitive functions were impaired in patients with either predominant EOA or predominant EOD and whether cognitive profiles differed between both patient groups.</p></div><div><h3>Methods</h3><p>The sample consisted of 26 EOA and 26 EOD patients with varying etiology but similar duration and severity of the disorder. Patient samples were compared to a group of 26 healthy controls, all matched on age and gender. All participants underwent neuropsychological testing for verbal intelligence, memory, working memory, attention/cognitive speed, executive functions, emotion recognition and language.</p></div><div><h3>Results</h3><p>EOA and EOD patients both performed significantly worse than healthy controls on tests of verbal intelligence, working memory and executive functions. Additionally, attention/cognitive speed and emotion recognition were impaired in the EOA group. Compared to EOD, EOA patients performed worse on attention/cognitive speed and verbal intelligence.</p></div><div><h3>Conclusions</h3><p>Our results show overall similar profiles of cognitive deficits in both patient groups, but deficits were more pronounced in the patients with EOA. This suggests that more severe cognitive impairment is related to more severe cerebellar network dysfunction.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"49 ","pages":"Pages 100-105"},"PeriodicalIF":3.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824000230/pdfft?md5=ec0c11b5b96e2bdbdfcfaa2c6008ebf3&pid=1-s2.0-S1090379824000230-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140055882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between vitamin B12 deficiency and risk of Paediatric narcolepsy: Evidence from cross-sectional study and Mendelian randomization analysis","authors":"Chaofan Geng ,&nbsp;Leilei Tan ,&nbsp;Bo Zhao ,&nbsp;Chen Chen","doi":"10.1016/j.ejpn.2024.03.002","DOIUrl":"10.1016/j.ejpn.2024.03.002","url":null,"abstract":"<div><h3>Background</h3><p>Narcolepsy, a chronic neurologic sleep disorder, has sparked growing interest in the potential role of vitamin B12 in its pathogenic mechanism. However, research on this association has predominantly focused on adults. Our objective was to delineate the phenotypic and genetic connections between serum vitamin B12 levels and paediatric narcolepsy.</p></div><div><h3>Methods</h3><p>To investigate the causal relationship between vitamin B12 and paediatric narcolepsy, we conducted a retrospective analysis involving 60 narcolepsy patients and a matched control group. Univariate and multivariate logistic regression models were employed to identify independent factors influencing paediatric narcolepsy. Furthermore, a bidirectional two-sample Mendelian randomization (MR) analysis was performed to assess the causal connection between serum vitamin B12 levels and narcolepsy.</p></div><div><h3>Results</h3><p>Paediatric narcolepsy patients showed significantly lower serum levels of vitamin B12 and folate compared to the control group (P &lt; 0.05). Multivariate logistic regression analysis identified serum vitamin B12 as the exclusive independent factor influencing paediatric narcolepsy (P &lt; 0.001; OR = 0.96; 95%CI: 0.94–0.98). Additionally, IVW model results provided compelling evidence supporting a potential causal association between serum vitamin B12 levels and paediatric narcolepsy (OR: 0.958, 95% CI = 0.946–0.969, P = 0.001).</p></div><div><h3>Conclusion</h3><p>This study establishes connections at both phenotypic and genetic levels, associating vitamin B12 deficiency with an increased risk of paediatric narcolepsy. These findings provide innovative perspectives for clinical strategies in the prevention and treatment of narcolepsy.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"49 ","pages":"Pages 106-112"},"PeriodicalIF":3.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140083294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Follow up of children with mild traumatic brain injury: Dilemma's in follow up","authors":"Coriene Catsman-Berrevoets MD, PhD","doi":"10.1016/j.ejpn.2024.04.003","DOIUrl":"10.1016/j.ejpn.2024.04.003","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"49 ","pages":"Page A2"},"PeriodicalIF":3.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140612994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vaccination proposal for patients on onasemnogene abeparvovec therapy","authors":"Sarolta Dobner ,&nbsp;Andrea Kulcsár ,&nbsp;Zoltán Liptai ,&nbsp;Zsuzsanna Vojnisek ,&nbsp;Tamás Constantin ,&nbsp;Léna Szabó","doi":"10.1016/j.ejpn.2024.02.010","DOIUrl":"10.1016/j.ejpn.2024.02.010","url":null,"abstract":"<div><p>The approval of disease-modifying treatment in spinal muscular atrophy made the condition less severe. The course of the disease changed, but some new concerns occurred with the different new therapies. The side effects of onasemnogene aboparvovec therapy can raise differential diagnostic challenges and necessitate immune therapy, leading to immunosuppression affecting response to vaccines. We provide a pretherapy screening proposal from an infectological point of view separately for newborns treated presymptomatically and children diagnosed with symptoms at any age. Furthermore, we summarise the guidelines on the vaccination before, during, and after immune therapy (steroids) in onasemnogene aboparvovec-treated patients.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"49 ","pages":"Pages 95-99"},"PeriodicalIF":3.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824000175/pdfft?md5=d2e9605c6146910e89b5ef55bce2dd15&pid=1-s2.0-S1090379824000175-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140055987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Response to updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy","authors":"Sam Amin,&nbsp;Finbar O'Callaghan","doi":"10.1016/j.ejpn.2024.01.005","DOIUrl":"https://doi.org/10.1016/j.ejpn.2024.01.005","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"49 ","pages":"Pages 129-130"},"PeriodicalIF":3.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140160886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management","authors":"Lucia Laugwitz ,&nbsp;Daphne H. Schoenmakers ,&nbsp;Laura A. Adang ,&nbsp;Stefanie Beck-Woedl ,&nbsp;Caroline Bergner ,&nbsp;Geneviève Bernard ,&nbsp;Annette Bley ,&nbsp;Audrey Boyer ,&nbsp;Valeria Calbi ,&nbsp;Hanka Dekker ,&nbsp;Florian Eichler ,&nbsp;Erik Eklund ,&nbsp;Francesca Fumagalli ,&nbsp;Francesco Gavazzi ,&nbsp;Sabine W. Grønborg ,&nbsp;Peter van Hasselt ,&nbsp;Mirjam Langeveld ,&nbsp;Caroline Lindemans ,&nbsp;Fanny Mochel ,&nbsp;Andreas Oberg ,&nbsp;Samuel Groeschel","doi":"10.1016/j.ejpn.2024.03.003","DOIUrl":"10.1016/j.ejpn.2024.03.003","url":null,"abstract":"<div><h3>Introduction</h3><p>Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disorder resulting from arylsulfatase A enzyme deficiency, leading to toxic sulfatide accumulation. As a result affected individuals exhibit progressive neurodegeneration. Treatments such as hematopoietic stem cell transplantation (HSCT) and gene therapy are effective when administered pre-symptomatically. Newborn screening (NBS) for MLD has recently been shown to be technically feasible and is indicated because of available treatment options. However, there is a lack of guidance on how to monitor and manage identified cases. This study aims to establish consensus among international experts in MLD and patient advocates on clinical management for NBS-identified MLD cases.</p></div><div><h3>Methods</h3><p>A real-time Delphi procedure using eDELPHI software with 22 experts in MLD was performed. Questions, based on a literature review and workshops, were answered during a seven-week period. Three levels of consensus were defined: A) 100%, B) 75–99%, and C) 50–74% or &gt;75% but &gt;25% neutral votes. Recommendations were categorized by agreement level, from strongly recommended to suggested. Patient advocates participated in discussions and were involved in the final consensus.</p></div><div><h3>Results</h3><p>The study presents 57 statements guiding clinical management of NBS-identified MLD patients. Key recommendations include timely communication by MLD experts with identified families, treating early-onset MLD with gene therapy and late-onset MLD with HSCT, as well as pre-treatment monitoring schemes. Specific knowledge gaps were identified, urging prioritized research for future evidence-based guidelines.</p></div><div><h3>Discussion</h3><p>Consensus-based recommendations for NBS in MLD will enhance harmonized management and facilitate integration in national screening programs. Structured data collection and monitoring of screening programs are crucial for evidence generation and future guideline development<strong>.</strong> Involving patient representatives in the development of recommendations seems essential for NBS programs.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"49 ","pages":"Pages 141-154"},"PeriodicalIF":3.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824000278/pdfft?md5=6cfbb1f08c88cf9882f15ea6d605e8cd&pid=1-s2.0-S1090379824000278-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140125373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adolescents with Rett syndrome at critical care pathway junctures: Examining clinicians’ decision to initiate invasive long-term ventilation","authors":"Mary Brigid Quirke ,&nbsp;Denise Alexander ,&nbsp;Lorna Cassidy ,&nbsp;Cathal Walsh ,&nbsp;Kate Masterson ,&nbsp;Katie Hill ,&nbsp;Maria Brenner","doi":"10.1016/j.ejpn.2024.02.015","DOIUrl":"10.1016/j.ejpn.2024.02.015","url":null,"abstract":"<div><h3>Background</h3><p>The initiation of invasive long-term ventilation (I-LTV) for an adolescent with Rett Syndrome (RTT) involves many serious bioethical considerations. In moving towards a more inclusive model of patient participation, transparency surrounding the main influencing factors around this decision is important.</p></div><div><h3>Objective</h3><p>We aimed to identify the main drivers influencing a clinician's decision to support initiation of I-LTV for an adolescent with RTT.</p></div><div><h3>Method</h3><p>We used an anonymous online vignette-based factorial survey. The survey was distributed internationally through eight professional multi-disciplinary organisations to reach clinicians working in paediatrics.</p></div><div><h3>Results</h3><p>We analysed 504 RTT vignettes completed by 246 clinicians using mixed effect regression modelling. The main three significant influencing factors identified were: parental agreement with the decision to support initiation, the family's support network, and proximity to a tertiary care centre<strong>.</strong> Additional comments from participants focused on family support, and the importance of on-going communication with the family.</p></div><div><h3>Conclusion</h3><p>As the rights of those with disabilities improve and participation of adolescents in decision-making becomes more established, effective communications with the family around goals of care and particular sensitivity and reflective practice around methods of consensus building will likely contribute to a positive decision-making process at this difficult time.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"49 ","pages":"Pages 113-119"},"PeriodicalIF":3.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824000229/pdfft?md5=eaa7e83dc029d86dcfc396ab7c30d29e&pid=1-s2.0-S1090379824000229-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140084011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Botulinum neurotoxin type A responders among children with spastic cerebral palsy: Pattern-specific effects","authors":"E. Papageorgiou ,&nbsp;N. Peeters ,&nbsp;L. Staut ,&nbsp;G. Molenaers ,&nbsp;E. Ortibus ,&nbsp;A. Van Campenhout ,&nbsp;K. Desloovere","doi":"10.1016/j.ejpn.2024.02.017","DOIUrl":"10.1016/j.ejpn.2024.02.017","url":null,"abstract":"<div><h3>Aim</h3><p>To identify short-term effects of botulinum neurotoxin type A (BoNT) injections on gait and clinical impairments, in children with spastic cerebral palsy (CP), based on baseline gait pattern-specific subgroups.</p></div><div><h3>Method</h3><p>Short-term effects of BoNT injections in the medial hamstrings and gastrocnemius were defined in a retrospective convenience sample of 117 children with CP (median age: 6 years 4 months; GMFCS I/II/III: 70/31/16; unilateral/bilateral: 56/61) who had received gait analyses before and 2 months post-BoNT. First, baseline gait patterns were classified. Statistical and meaningful changes were calculated between pre- and post-BoNT lower limb sagittal plane kinematic waveforms, the gait profile score, and non-dimensional spatiotemporal parameters for the entire sample and for pattern-specific subgroups. These gait waveforms per CP subgroup at pre- and post-BoNT were also compared to typically developing gait and composite scores for spasticity, weakness, and selectivity were compared between the two conditions.</p></div><div><h3>Results</h3><p>Kinematic improvements post-BoNT were identified at the ankle and knee for the entire sample, and for subgroups with apparent equinus and jump gait. Limbs with baseline patterns of dropfoot and to a lesser extent true equinus showed clear improvements only at the ankle. In apparent equinus, jump gait, and dropfoot, spasticity improved post-BoNT, without leading to increased weakness or diminished selectivity. Compared to typical gait, knee and hip motion improved in the crouch gait subgroup post-BoNT.</p></div><div><h3>Conclusion</h3><p>This comprehensive analysis highlighted the importance of investigating BoNT effects on gait and clinical impairments according to baseline gait patterns. These findings may help identify good treatment responders.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"49 ","pages":"Pages 131-140"},"PeriodicalIF":3.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140055743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Be aware of childhood stroke: Proceedings from EPNS Webinar","authors":"Gabriela Oesch ,&nbsp;Robin Münger ,&nbsp;Maja Steinlin","doi":"10.1016/j.ejpn.2024.02.001","DOIUrl":"10.1016/j.ejpn.2024.02.001","url":null,"abstract":"<div><p>Childhood arterial ischaemic stroke (AIS) is a significant health concern with increasing incidence. This review aims to provide an overview of the current understanding of childhood AIS.</p><p>The incidence of childhood AIS is on the rise especially in developing countries, likely due to improved awareness and diagnostic capabilities. Aetiology of childhood AIS is multifactorial, with both modifiable risk factors and genetic predisposition playing important roles. Identifying and addressing these risk factors, such as infection, sickle cell disease, and congenital heart defects, is essential in prevention and management. Identifying underlying conditions through genetic testing is important for appropriate management and long-term prognosis.</p><p>Clinically, distinguishing stroke from stroke mimics can be challenging. Awareness of important stroke mimics, including migraines, seizures, and metabolic disorders, is crucial to avoid misdiagnosis and ensure appropriate treatment. The diagnostic approach to childhood AIS involves a comprehensive “chain of care,” including initial assessment, neuroimaging, and laboratory investigations. National guidelines play a pivotal role in standardizing and streamlining the diagnostic process, ensuring prompt and accurate management.</p><p>Early intervention is critical in the management of childhood AIS. Due to the critical time window, the question if mechanical thrombectomy is feasible and beneficial should be addressed as fast as possible. Early initiation of antiplatelet or anticoagulation therapy and, in select cases, thrombolysis can help restore blood flow and minimize long-term neurological damage. Additionally, rehabilitation should start as soon as possible to optimize recovery and improve functional outcomes.</p><p>In conclusion, childhood AIS is a growing concern. Understanding the increasing incidence, age distribution, risk factors, clinical presentation, diagnostic approach, and management strategies is crucial for optimized management of these patients.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"49 ","pages":"Pages 82-94"},"PeriodicalIF":3.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824000084/pdfft?md5=af1aef9317c2094eef09c158b2dcdae4&pid=1-s2.0-S1090379824000084-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139950765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Paediatric optic neuritis: Are we seeing things clearer now?","authors":"Joshua Paul Harvey,&nbsp;Ming Lim","doi":"10.1016/j.ejpn.2024.04.004","DOIUrl":"10.1016/j.ejpn.2024.04.004","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"49 ","pages":"Page A3"},"PeriodicalIF":3.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140598207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}